CRISPR/Cas9 technology generated a 2 bp deletion (CC) in exon 3, resulting in a frameshift at residue 90 which putatively should generate an aberrant protein of 111 amino acids instead of 269-residue protein. Western blot analysis with an antibody against the central region of the protein did not detect protein in homozygous mice. (J:307382)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6 x DBA/2)F1
Endonuclease-mediated
Intragenic deletion
--
1
--
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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